H-InvDB_9.0 released on May 27, 2015.
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H-Inv ID (HIT)
H-Inv cluster ID (HIX)
H-Inv protein ID (HIP)
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Definition*
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---
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H-Invitational ID:
HIT000047666
Accession number:
AK127793
Created date:
26-Mar-2013
Last modified:
27-May-2015
Definition:
Similar to R3H domain-containing protein 1;
Select format
Flat file
XML file
Nucleotide sequence fasta
Protein sequence fasta
Transcript original information
Accession number
AK127793.1
CAGE tag ID
NA
EST ID
NA
Clone Number
OCBBF3023913
Experimental resources
NBRC
;
HGPD
;
Antibody (R3HDM1)
;
Catalog (R3HDM1)
;
Sequence data provider
Project:FLJ; Provider:FLJ/HRI;
Annotation project
H-Invitational FLcDNA
Length of cDNA
4340[bp] (No. of exon:23)[A:1314 T:1094 G:839 C:1093]
Devision
HUM
Molecular type
mRNA
Library origin
Cell type
NA
Tissue type
brain
Develpmental stage
fetal
Sequence quality information
CDS feature
Complete CDS
Kozak sequence
NA
PolyA
NA
Vector/adapter sequence
NA
Frame shift
NA
Remaining intron
NA
Splice site acceptor (NAGNAG)
CAGGAG; TAGCAG;
Transcript quality feature
NA
Notes
NA
AGACTGCTCTAGCAGGCACTCCCAATGCCAGACTAATCAGCTGGATGTGT GCAGTGAGCTCTATAGAGGAGCAATGCAGAGCATCAGTTTACAGGTACTA TGGAAAGAACATCTCCTTAACTCTGTATGATGAAGCAAATACCAATACAA TGAAGGCCACGGAAAGGTATGATATATTTGATCCAAGACAGTCCATTCCA GTCCGGGAATCTACAGTGGTGACAAGGACATGGGACTCCTCCTGCCAGAT TACAGATGGTTCACTACAGTTGACATCCTGGCTGACAACTGTGAAAAAGA ACCTTGGATTATTTTATTTTATTTTTGTGGGACACCACAATCCCAAATCC AAAGGACGCATCAGGAGAAAATTCAGATCCAGTTAACACAATCATTTGAG AAAGAAGAGAAGCCCTCAAAAGATGAAGCAGAAAAAGAAAAGGCCAGTGA TAAGTTGCCCAGAAAAATGTTATCAAGAGATTCCAGTCAAGAATACACTG ATTCAACTGGCATAGATCTACATGAATTTTTAGTAAATACATTAAAAAAC AATCCCAGGGACAGAATGATGCTGCTGAAATTGGAACAAGAAATTTTAGA TTTCATTGGTAATAATGAGTCTCCACGTAAAAAATTCCCCCCAATGACAT CTTACCATAGGATGCTATTACACAGAGTAGCCGCTTACTTTGGATTAGAC CACAATGTTGATCAGAGTGGGAAGTCTGTCATAGTAAACAAAACTAGCAA TACAAGAATACCTGATCAGAAATTTAATGAACATATTAAGGATGATAAAG GTGAAGACTTTCAGAAACGTTATATCCTCAAGAGAGATAACTCTAGCTTT GACAAAGATGATAACCAGATGAGAATACGTTTGAAAGATGACAGAAGAAG CAAATCTATAGAAGAAAGAGAAGAAGAGTACCAGAGAGCCAGAGACCGAA TATTTTCCCAAGATTCCCTGTGTTCCCAAGAGAATTACATTATTGACAAA AGACTCCAAGACGAGGATGCCAGTAGTACCCAGCAGAGGCGCCAGATATT TAGAGTTAATAAAGATGCTTCAGGGAGATCTACAAATAGCCATCAAAGCA GCACTGAGAATGAGTTGAAGTACTCGGAACCACGACCCTGGAGCAGCACA GATTCAGACAGCTCTCTTCGAAACCTGAAACCTGCTGTAACCAAAGCCAG CAGCTTCAGTGGAATCTCAGTCCTGACAAGAGGTGATAGTTCTGGAAGCA GCAAAAGCATAGGCAGGCTTTCAAAAACAGGTTCTGAGTCTTCTGGTAGT GTAGGGTCATCTACAGGCTCTCTTTCTCACATCCAGCAGCCTCTTCCAGG TACAGCTCTCAGCCAGTCTTCTCATGGCGCACCTGTCGTCTATCCAACTG TCAGCACTCATAGTTCTCTTTCCTTTGATGGTGGCCTAAATGGGCAAGTC GCATCTCCTAGCACTAGCTTCTTTTTGCTTCCCTTGGAAGCGGCAGGCAT ACCACCTGGCAGTATTCTGATCAACCCACAAACAGGTCAGCCCTTCATAA ACCCAGATGGGAGTCCAGTTGTGTATAATCCTCCTATGACTCAACAACCA GTTAGATCCCAAGTGCCTGGACCTCCACAGCCACCTCTGCCAGCCCCACC TCAACAACCAGCAGCTAATCACATTTTCTCACAGCAGGATAACCTAGGGT CTCAGTTTAGCCACATGAGTCTTGCTCGCCAGCCATCTGCTGATGGTTCT GACCCTCATGCCGCCATGTTCCAGTCCACTGTGGTTCTTCAGTCTCCACA GCAGTCTGGTTATATCATGACAGCAGCCCCTCCACCACATCCTCCTCCAC CGCCACCACCACCACCTCCTCCTCCTCCCCTACCACCTGGGCAGCCAGTC CCTACTGCTGGATATCCTGCCTCTGGTCATCCTGTCAGCCAGCCTGTGCT CCAGCAGCCGGGATATATTCAGCAGCCATCACCACAGATGCCAGCCTGTT ATTGCGCTCCAGGCCACTATCACTCCAGCCAACCTCAGTATCGCCCAGTC CCTTCTGTTCATTACAATTCACATCTAAACCAACCACTGCCACAACCTGC GCAGCAGACAGGTTATCAAGTTATACCCAACCAGCAGCAAAACTACCAAG GAATAGTTGGAGTTCAGCAACCCCAGAGTCAGAGCCTAGTCAGTGGCCAA CCCAACAGCATTGGAAATCAGATTCAAGGAGTGGTCATCCCCTATACTTC AGTGCCAACATATCAGGTTTCACTGCCTCAAGGTTCTCAAGGAATTCCCC ATCAGACTTATCAACAGCCTGTTATGTTCCCTAATCAGTCTAATCAAGGA TCTATGCCCACAACAGGAATGCCTGTTTACTATAGTGTCATTCCACCTGG TCAACAAAACAATTTAAGCTCTTCAGTAGGTTACCTGCAACATCCAGGAT CAGAACAAGTACAATTTCCTCGAACCACTTCACCATGCAGTTCCCAGCAG CTTCAAGGCCACCAATGTACAGCTGGACCACCACCGCCACCTGGTGGGGG GATGGTGATGATGCAGCTCAGTGTACCAAACAATCCACAATCTTGTGCCC ACTCACCCCCGCAGTGGAAACAAAACAAATATTACTGTGATCACCAGAGA GGACAGAAGTGTGTAGAATTTAGCAGTGTAGACAATATTGTCCAGCACAG CCCTCAACTCAGTAGCCCCATTATTTCACCAGCTCAGTCGCCAGCACCAG CTCAGCTGTCCACCCTGAAAACTGTACGTCCCTCTGGACCACCACTTTCC ATCATGCCCCAATTTTCTAGACCTTTTGTCCCCGGGCAAGGAGATTCCAG GTATCCATTACTTGGCCAGCCACTGCAGTACAATCCTCCTGCTGTTCTGC ACGGACACATTCCAAACCAACAGGGTCAGCCTGGCAGCAGGCATGGAAAC CGAGGAAGGAGACAAGCTAAAAAAGCTGCATCCACAGACCTTGGAGCAGG AGAAACAGTTGTTGGGAAGGTCTTGGAAATTACTGAACTACCAGATGGAA TAACTCGCATGGAAGCTGAAAAGCTTTTTGGGGAACTCTTTAAAATTGGC GCCAAGATCCGGTGGCTCCGGGACCCCCAGTCCCAACCACGTCGTCACCC CCTCTGCTGTGGCAGTGGGGACAACACTGCCAACCCTGAACGCTCTAAAC CCAGTGACTTGGCCTCCACCTACACCGTCTTAGCCACATTCCCCTCCATT TCAGCTGCACAGAATGCACTGAAGAAACAAATTAACTCAGTTAACAAGTT TAAGCTGAGAACAAGCAAGAAGCACTATGACTTTCACATTTTGGAAAGGG CAAGTTCTCAGTAACAGCCACCTTTGGACCCTTCGCCTTTATGGTTCCCC TGCCCTCTCCCATCTTTGATTGGCTTGGTATTTGGAGCTTCTGTTAACAT TATAGAGACTCCTAGGATGTGTGTTCATGGCATTATAGCTTTTGAAGAAA GGCCAGTGATCCAGCAAAGGGGGAAAAATATGCATTTCACCCCACATGAC TAGGAATCCACATCAGAATGATACAGAGTTAGCAGGTTTTTCTAAGGAAA TGCCATTCAAATGCCTCCTAACTTTTATAGTTATTTTGTTTTATATTTCT AAATTCTTGTATCAGATCCAAAGCTCTATTGTACAGCAAATTATTCTTCA AAATGATTATAACCAGTTGCACCCTGTATTTCTTTTTGCAGCCAGCACAA TGTGACCCAACTTAAAATTTGGGGGAAAAAGAATGCAGGAGTGAAATAAC CAAGTCAAAACCATGTACTATCTCCTTGGGGGTTAGGGATGCTAAGAAGA GCCCACAAATAGAGGATTACTCTTCCCCTGAATCTCTAAACTCAGAAACA ATTACCAAAAAATACATAACTCTTCCTTGTAGGGCCCTTTCCTTATTCAT TTAGGTAGTGTGAACATTAAGTATAAAATAAATTATGTTCTTAATGCCTC TTAAACCACTTACATTCAAAGGGGAACAGAAATCATTCTAAGCAGGAAAA TACTTCCACTTTTTTTTTTTCAAGTATCTCTCTAATAACTAAATGCCACT TATTTGCATTCTCCTTGTGGATTTTTTGTCACCTAAGGAAATGCATTTGA TGAGTGCTGGAAACTTCTTAAGTGCTTTACAGTTTGTTTTCATTGTTTGC AGCGGATCACTGGACATCAAAGATTCATTGCACTTATGAACAAGGAACCT TCTTTTCAATTTCTGTGTAATTTGCAAGGCTGTACAATGTGTGCTGATGC AAGCCTTTTTCAGTTCAAGAGAATAAATGTTTACAAATAT
Gene structure information
H-Inv cluster ID
HIX0002476
Genomic location
Chromosome
2
Location
2q21.3
Position
136343922- 136482838
Strand
+
Possible duplicated location(s)
NA
Gene structure
23 exon(s)
Database links
RefSeq
NA
Ensembl
NA
Entrez Gene
Entrez Gene ID:23518
;
KEGG GENES
KEGG GENES(23518)
;
GeneCard
R3HDM1
;
*GeneCards is provided free to academic non-profit institutions.
Related H-InvDB links
H-DBAS
;
G-integra
;
cDNA-genome alignment
;
Predicted CDS information
HIP ID
HIP000058001
Predicted CDS
230..3364; 1044[aa]; Orientation:+2;
Codon Adaptation Index (CAI).
0.725
MGLLLPDYRWFTTVDILADNCEKEPWIILFYFCGTPQSQIQRTHQEKIQI QLTQSFEKEEKPSKDEAEKEKASDKLPRKMLSRDSSQEYTDSTGIDLHEF LVNTLKNNPRDRMMLLKLEQEILDFIGNNESPRKKFPPMTSYHRMLLHRV AAYFGLDHNVDQSGKSVIVNKTSNTRIPDQKFNEHIKDDKGEDFQKRYIL KRDNSSFDKDDNQMRIRLKDDRRSKSIEEREEEYQRARDRIFSQDSLCSQ ENYIIDKRLQDEDASSTQQRRQIFRVNKDASGRSTNSHQSSTENELKYSE PRPWSSTDSDSSLRNLKPAVTKASSFSGISVLTRGDSSGSSKSIGRLSKT GSESSGSVGSSTGSLSHIQQPLPGTALSQSSHGAPVVYPTVSTHSSLSFD GGLNGQVASPSTSFFLLPLEAAGIPPGSILINPQTGQPFINPDGSPVVYN PPMTQQPVRSQVPGPPQPPLPAPPQQPAANHIFSQQDNLGSQFSHMSLAR QPSADGSDPHAAMFQSTVVLQSPQQSGYIMTAAPPPHPPPPPPPPPPPPP LPPGQPVPTAGYPASGHPVSQPVLQQPGYIQQPSPQMPACYCAPGHYHSS QPQYRPVPSVHYNSHLNQPLPQPAQQTGYQVIPNQQQNYQGIVGVQQPQS QSLVSGQPNSIGNQIQGVVIPYTSVPTYQVSLPQGSQGIPHQTYQQPVMF PNQSNQGSMPTTGMPVYYSVIPPGQQNNLSSSVGYLQHPGSEQVQFPRTT SPCSSQQLQGHQCTAGPPPPPGGGMVMMQLSVPNNPQSCAHSPPQWKQNK YYCDHQRGQKCVEFSSVDNIVQHSPQLSSPIISPAQSPAPAQLSTLKTVR PSGPPLSIMPQFSRPFVPGQGDSRYPLLGQPLQYNPPAVLHGHIPNQQGQ PGSRHGNRGRRQAKKAASTDLGAGETVVGKVLEITELPDGITRMEAEKLF GELFKIGAKIRWLRDPQSQPRRHPLCCGSGDNTANPERSKPSDLASTYTV LATFPSISAAQNALKKQINSVNKFKLRTSKKHYDFHILERASSQ*
Motif information
a.a.
length
InterPro
Name
122
IPR001374
Single-stranded nucleic acid binding R3H [Domain]
78
IPR001374
Single-stranded nucleic acid binding R3H [Domain]
64
IPR001374
Single-stranded nucleic acid binding R3H [Domain]
61
IPR001374
Single-stranded nucleic acid binding R3H [Domain]
64
IPR001374
Single-stranded nucleic acid binding R3H [Domain]
71
IPR024771
SUZ domain [Domain]
51
IPR024771
SUZ domain [Domain]
Gene function information
H-Inv ID
HIT000047666
H-Inv cluster ID
HIX0002476
Accession number
AK127793.1
CAGE tag ID
NA
EST ID
NA
Transcript feature
NO;
Splicing isoform
Coding potential
Protein coding;
Definition
Similar to R3H domain-containing protein 1;
Similarity category
Category: Similar to known protein(Category II).
Similar to known protein (
Q15032
) [Identity/coverage = 99.107%/91.72%] to Homo sapiens (Human). protein.
Experimental evidence
Protein evidence
PubMed ID
7584026
;
15144186
;
15489334
;
18669648
;
19690332
;
20068231
;
21406692
;
ALL
;
Gene family/group
H-Inv gene family/group ID
NA
Gene family/group name
NA
Evidence motif (InterPro) ID
NA
Gene symbol/name
HGNC symbol
R3HDM1
HGNC aliases
"R3H domain (binds single-stranded nucleic acids) containing"
HGNC name
R3H domain containing 1
DDBJ
NA
UniProt
R3HDM1
EC number
NA
GGDB
(GlycoGene Database)
Gene symbol
NA
Familly
NA
Designation
NA
Expression
NA
KEGG metabolic pathway
NA
Protein-protein interaction (PPI)
H-Inv protein ID
HIP000058001
No. of interaction
NA
Interaction partner(s)
NA
BIND
NA
DIP
NA
MINT
NA
HPRD
NA
IntAct
NA
Database links
RefSeq
NA
Ensembl
NA
Entrez Gene
Entrez Gene ID:23518
;
KEGG GENES
KEGG GENES(23518)
;
GeneCard
R3HDM1
;
*GeneCards is provided free to academic non-profit institutions.
etc
Human-Gene diversity Of Life-style related Diseases
;
Curation status
Auto-annotated
Notes
NA
Related H-InvDB links
Gene family;
Similarity Search Tool;
TACT
;
fRNAdb (The functional RNA database) : overlapping fRNAdb entries with H-InvDB transcripts based on the location of the genome.
NA
Gene ontology information
Molecular function
nucleic acid binding (
GO:0003676
);
Subcellular localization information
Last modified:27-May-2015
WoLF PSORT
nuclear; cytosol;
Target P
Other
SOSUI
soluble protein
TMHMM
soluble protein
PTS1
Not targeted
Related H-InvDB links
LIFEdb;
JRE-1.4.0 or later is required.
Download JRE at
Sun's web site.
Protein structure information (GTOP)
Last modified:27-May-2015
Start
End
PDB_ID
E-value
Identity
Coverage
SCOP_ID
85
205
1whrA
9e-33
75.2
121/124
d.68.7.1
Related H-InvDB links
GTOP
Gene expression information
Last modified:27-May-2015
Tissue-specific expression
NA
Probe
information
AceGene
AGhsA240320;
Affymetrix
GeneChip
HG-Focus
NA
HG-U133
202754_at;
HG-U133A
202754_at;
HG-U133A_2
202754_at;
HG-U133B
NA
HG-U133_Plus_2
202754_at;
HG-U95
36610_at;
HG-U95A
36610_at;
HG-U95B
NA
HG-U95C
NA
HG-U95D
NA
HG-U95E
NA
HG-U95Av2
NA
HuEx-1_0
2507395; 2507396; 2507402; 2507415; 2507416; 2507420; 2507421; 2507422; 2507425; 2507427; 2507429; 2507430; 2507431; 2507432; 2507435; 2507437; 2507438; 2507443; 2507444; 2507445; 2507448; 2507449; 2507460; 2507461; 2507471; 2507472; 2507475; 2507476; 2507480; 2507481; 2507482; 2507483; 2577840; 2577848;
HuGeneFL
D21852_at;
Agilent
Human 1A Oligo Microarray:PGID215
A_23_P380998;
Whole Human Genome Oligo Microarray:PGID247
A_23_P380998;
Related H-InvDB links
H-ANGEL
;
DNAProbeLocator
;
Polymorphism (SNP, indel), microsatellite (Short Tandem Repeat, STR) and repeat information
Single Nucleotide Polymorphism (SNP) and indel
Location
Variation
dbSNP ID
Strand
CDS/UTR
Translation
54 .. 54
G/C
rs140937367
+
5'UTR
406 .. 406
A/C
rs150951840
+
CDS
Nonsynonymous[Glu59Asp]
437 .. 437
G/A
rs143615820
+
CDS
Nonsynonymous[Glu70Lys]
489 .. 489
A/C
rs201209663
+
CDS
Nonsynonymous[Gln87Pro]
627 .. 627
G/A
rs144742726
+
CDS
Nonsynonymous[Arg133His]
869 .. 869
A/G
rs961360
-
CDS
Nonsynonymous[Met214Val]
980 .. 980
G/A
rs202129033
+
CDS
Nonsynonymous[Glu251Lys]
989 .. 989
A/C
rs34088964
-
CDS
Nonsynonymous[Ile254Leu]
1010 .. 1010
G/A
rs139991249
+
CDS
Nonsynonymous[Asp261Asn]
1041 .. 1041
G/A
rs202036518
+
CDS
Nonsynonymous[Arg271His]
1104 .. 1104
C/G
rs114219457
+
CDS
Nonsynonymous[Thr292Ser]
1191 .. 1191
C/T
rs182409818
+
CDS
Nonsynonymous[Thr321Ile]
1328 .. 1328
C/T
rs199860629
+
CDS
Nonsynonymous[His367Tyr]
1451 .. 1451
G/A
rs140932904
+
CDS
Nonsynonymous[Ala408Thr]
1491 .. 1491
C/G
rs147536237
+
CDS
Nonsynonymous[Ala421Gly]
1492 .. 1492
G/A
rs149874194
+
CDS
Synonymous[Ala421Ala]
1495 .. 1495
A/C
rs144901752
+
CDS
Synonymous[Ala422Ala]
1496 .. 1496
G/C
rs143277081
+
CDS
Nonsynonymous[Gly423Arg]
1530 .. 1530
A/G
rs116803765
+
CDS
Nonsynonymous[Gln434Arg]
1533 .. 1533
C/T
rs140890871
+
CDS
Nonsynonymous[Thr435Ile]
1590 .. 1590
C/T
rs150394823
+
CDS
Nonsynonymous[Thr454Ile]
1648 .. 1648
A/T
rs13425947
+
CDS
Synonymous[Pro473Pro]
1702 .. 1702
T/C
rs139193845
+
CDS
Synonymous[Ser491Ser]
1762 .. 1762
C/T
rs147519491
+
CDS
Synonymous[Ala511Ala]
1806 .. 1806
C/G
rs201789029
+
CDS
Nonsynonymous[Ser526Cys]
1829 .. 1829
C/A
rs112729561
+
CDS
Nonsynonymous[Pro534Thr]
1831 .. 1831
T/C
rs201061461
+
CDS
Synonymous[Pro534Pro]
1839 .. 1839
A/G
rs150498555
+
CDS
Nonsynonymous[His537Arg]
1843 .. 1843
T/C
rs200431099
+
CDS
Synonymous[Pro538Pro]
1866 .. 1866
C/T
rs139457585
+
CDS
Nonsynonymous[Pro546Leu]
1876 .. 1876
T/C
rs111235534
+
CDS
Synonymous[Pro549Pro]
1927 .. 1927
T/A
rs202173447
+
CDS
Synonymous[Gly566Gly]
1959 .. 1959
C/A
rs2305165
-
CDS
Nonsynonymous[Pro577Gln]
2006 .. 2006
G/A
rs144077610
+
CDS
Nonsynonymous[Ala593Thr]
2016 .. 2016
A/G
rs139502420
+
CDS
Nonsynonymous[His596Arg]
2042 .. 2042
C/T
rs114677169
+
CDS
Nonsynonymous[Arg605Cys]
2046 .. 2046
C/T
rs151233134
+
CDS
Nonsynonymous[Pro606Leu]
2100 .. 2100
C/T
rs199515262
+
CDS
Nonsynonymous[Ala624Val]
2101 .. 2101
G/A
rs139125340
+
CDS
Synonymous[Ala624Ala]
2157 .. 2157
T/G
rs201906607
+
CDS
Nonsynonymous[Val643Gly]
2182 .. 2182
G/C
rs143127486
+
CDS
Nonsynonymous[Gln651His]
2188 .. 2188
A/G
rs149624809
+
CDS
Synonymous[Leu653Leu]
2281 .. 2281
A/G
rs144388261
+
CDS
Synonymous[Gln684Gln]
2357 .. 2357
C/A
rs76298784
+
CDS
Nonsynonymous[Pro710Thr]
2422 .. 2422
T/C
rs199864603
+
CDS
Synonymous[Ser731Ser]
2475 .. 2475
C/T
rs200294484
+
CDS
Nonsynonymous[Thr749Ile]
2508 .. 2508
G/A
rs199587789
+
CDS
Nonsynonymous[Gly760Asp]
2522 .. 2522
G/A
rs144042865
+
CDS
Nonsynonymous[Ala765Thr]
2531 .. 2531
C/A
rs139565775
+
CDS
Nonsynonymous[Pro768Thr]
2610 .. 2610
C/T
rs145608320
+
CDS
Nonsynonymous[Pro794Leu]
2611 .. 2611
G/A
rs147882808
+
CDS
Synonymous[Pro794Pro]
2642 .. 2642
C/T
rs143703596
+
CDS
Nonsynonymous[His805Tyr]
2647 .. 2647
G/A
rs200624357
+
CDS
Synonymous[Gln806Gln]
2685 .. 2685
A/G
rs148125749
+
CDS
Nonsynonymous[Asn819Ser]
2716 .. 2716
C/G
rs115242070
+
CDS
Nonsynonymous[Ser829Arg]
2729 .. 2729
C/T
rs201494950
+
CDS
Nonsynonymous[Pro834Ser]
2834 .. 2834
G/A
rs116821936
+
CDS
Nonsynonymous[Gly869Arg]
2884 .. 2884
T/C
rs199595729
+
CDS
Synonymous[Asn885Asn]
2902 .. 2902
C/T
rs35003255
-
CDS
Synonymous[His891His]
2997 .. 2997
C/T
rs115519111
+
CDS
Nonsynonymous[Ala923Val]
3018 .. 3018
A/T
rs199512616
+
CDS
Nonsynonymous[Lys930Met]
3043 .. 3043
A/G
rs113498203
+
CDS
Synonymous[Pro938Pro]
3144 .. 3144
G/A
rs143951307
+
CDS
Nonsynonymous[Arg972His]
3147 .. 3147
A/G
rs148646134
+
CDS
Nonsynonymous[His973Arg]
3166 .. 3166
T/G
rs200059770
+
CDS
Nonsynonymous[Ser979Arg]
3171 .. 3171
A/G
rs72844194
+
CDS
Nonsynonymous[Asp981Gly]
3185 .. 3185
C/A
rs116105123
+
CDS
Nonsynonymous[Pro986Thr]
3192 .. 3192
G/A
rs114639828
+
CDS
Nonsynonymous[Arg988His]
3283 .. 3283
T/G
rs147866381
+
CDS
Nonsynonymous[Ile1018Met]
3287 .. 3287
T/G
rs190617868
+
CDS
Nonsynonymous[Ser1020Ala]
3321 .. 3321
A/G
rs141539490
+
CDS
Nonsynonymous[Lys1031Arg]
3322 .. 3322
G/A
rs145238803
+
CDS
Synonymous[Lys1031Lys]
3363 .. 3363
A/G
rs116499913
+
CDS
Synonymous_atSTOP[*1045*]
3381 .. 3381
C/T
rs182869080
+
3'UTR
3382 .. 3382
T/A
rs78511053
+
3'UTR
3470 .. 3470
T/C
rs187633452
+
3'UTR
3562 .. 3562
A/G
rs116610856
+
3'UTR
3682 .. 3682
T/C
rs3739027
-
3'UTR
3722 ^ 3723
-/C
rs57955497
+
3'UTR
3747 .. 3747
A/C
rs191985045
+
3'UTR
3821 .. 3821
T/G
rs143064512
+
3'UTR
4060 .. 4060
T/-
rs71672054
+
3'UTR
4076 .. 4076
A/C
rs75006798
+
3'UTR
Microsatellite (Short Tandem Repeat, STR)
No data available
Microsatellite: Human-Gene diversity Of Life-style related Diseases (H-GOLD)
No data available
Repeat
No data available
Database links
Human-Gene diversity Of Life-style related Diseases(H-GOLD)
;
Related H-InvDB links
VaryGene
;
Repeat Mask Viewer
;